A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598640



Internal ID16386049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71238313..71310679hg38UCSC Ensembl
Innerchr5:70534140..70606506hg19UCSC Ensembl
Innerchr5:70569896..70642262hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3872367
hg1972367
hg1872367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035079
Samples
Known GenesGUSBP9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598640
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer